{"orpha":1836,"name":"Mesomelic dysplasia, Kantaputra type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kantaputra mesomelic dysplasia","MDK","Mesomelic dysplasia, Thai type"],"definition":"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1836/","orphanet_url":"https://www.orpha.net/en/disease/detail/1836","names":{"fr":{"name":"Dysplasie mésomélique type Kantaputra","synonyms":["Dysplasie mésomélique de Kantaputra","Dysplasie mésomélique type Thaï","MDK"],"definition":"La dysplasie mésomélique type Kantaputra est une rare dysplasie squelettique caractérisée par des segments intermédiaires des membres courts et symétriques, et une petite taille."},"de":{"name":"Dysplasie, mesomele, Typ Kantaputra","definition":"Der Typ Kantaputra der Mesomelen Dysplasie (MDK) ist eine seltene Skelettkrankheit mit symmetrischer Verkürzung der Mittelsegmente der Gliedmaßen und Kleinwuchs."},"es":{"name":"Displasia mesomélica tipo Kantaputra","synonyms":["Displasia mesomélica de Kantaputra","Displasia mesomélica tipo Thai","MDK"],"definition":"La displasia mesomélica tipo Kantaputra es una enfermedad esquelética rara caracterizada por unos segmentos medios de las extremidades cortos y simétricos y estatura baja."},"it":{"name":"Displasia mesomelica, tipo Kantaputra","synonyms":["Displasia mesomelica di Kantaputra","Displasia mesomelica, tipo Thai","MDK"]},"nl":{"name":"Mesomele dysplasie, Kantaputra-type","synonyms":["MDK","Mesomele dysplasie van Kantaputra","Mesomele dysplasie, Thai-type"],"definition":"Mesomele dysplasie, Kantaputra-type (MDK) is een zeldzame aandoening van skelet, gekenmerkt door symmetrische verkorting van middelste segmenten van ledematen en kleine gestalte."},"pt":{"name":"Displasia mesomélica, tipo Kantaputra","synonyms":["Displasia mesomélica, tipo Thai"],"definition":"A displasia mesomélica tipo Kantaputra (MDK) é uma doença esquelética rara caracterizada pelo encurtamento simétrico dos segmentos médios dos membros e baixa estatura."},"pl":{"name":"Dysplazja mezomeliczna typu Kantaputra","synonyms":["Dysplazja mezomeliczna Kantaputra","Dysplazja mezomeliczna typu tajskiego","MDK"]},"cs":{"name":"Mesomelická dysplázie, Kantaputrův typ","synonyms":["Kantaputrova mesomelická dysplázie","MDK","Mesomelická dysplázie, thajský typ"]},"uk":{"name":"Мезомелічна дисплазія, тип Кантапутра","synonyms":["Мезомелічна дисплазія Кантапутра","MDK","Мезомелічна дисплазія, тайський тип"],"definition":"Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature."},"zh":{"name":"肢中骨发育不良，Kantaputra型","synonyms":["肢中发育不良，Thai型"]},"tr":{"name":"Mezomelik displazi, Kantaputra tipi","synonyms":["MDK","Kantaputra mezomelik displazi","Mezomelik displazi, Tay tipi"]}},"xrefs":[{"source":"OMIM","code":"156232","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613681","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"594111760"},{"source":"MONDO","code":"0007977","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535547","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835009","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3074","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"15211647[PMID]_15264287[PMID]_1481840[PMID]_20577005[PMID]_21654727[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15211647[PMID]_15264287[PMID]_1481840[PMID]_20577005[PMID]_21654727[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005009","label":"Dumbbell-shaped humerus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null}]}}